Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:126085913-126088095..7:126358358-126363704	GM12878	blood:
2	7:126358358-126363704..7:127009457-127018926	GM12878	blood:

Variant related genes	Relation type
ENSG00000179603	Chromatin interaction
ENSG00000048405	Chromatin interaction

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10238240	1.00[EUR][1000 genomes]
rs10240132	1.00[EUR][1000 genomes]
rs10240197	1.00[EUR][1000 genomes]
rs10243157	1.00[EUR][1000 genomes]
rs10246394	1.00[EUR][1000 genomes]
rs10248626	1.00[EUR][1000 genomes]
rs10249124	1.00[EUR][1000 genomes]
rs10251940	1.00[EUR][1000 genomes]
rs10252394	1.00[EUR][1000 genomes]
rs10255827	1.00[EUR][1000 genomes]
rs10257312	1.00[EUR][1000 genomes]
rs10267858	1.00[EUR][1000 genomes]
rs10269745	1.00[EUR][1000 genomes]
rs10279556	1.00[EUR][1000 genomes]
rs10281032	1.00[EUR][1000 genomes]
rs10281430	1.00[EUR][1000 genomes]
rs1419509	1.00[EUR][1000 genomes]
rs2106191	1.00[EUR][1000 genomes]
rs28513428	1.00[EUR][1000 genomes]
rs28536013	1.00[EUR][1000 genomes]
rs59800028	1.00[EUR][1000 genomes]
rs60259917	1.00[AMR][1000 genomes]
rs61207606	1.00[EUR][1000 genomes]
rs61755405	1.00[EUR][1000 genomes]
rs6946530	1.00[EUR][1000 genomes]
rs73449067	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73449077	1.00[EUR][1000 genomes]
rs73449083	1.00[EUR][1000 genomes]
rs73449094	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529300	chr7:125669493-126587858	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1032938	chr7:126067684-126587859	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv539119	chr7:126067684-126587859	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv889187	chr7:126219766-126478190	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1032108	chr7:126278349-126362592	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126342000-126367800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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